Varaico: Literature-Extracted Genetic Variants

PDGFB

219 papers

RefSeq Summary

This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically p...

Pfam Domains

PDGF_Naa 21–93UCSCPlatelet-derived growth factor, N terminal region

PDGFaa 97–180UCSCPDGF/VEGF domain

Gene Aliases

HGNC Name

platelet derived growth factor subunit B

HGNC Previous Symbol

SIS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002608.4

p.L17R

c.50T>G

Surrounding Variants

1 paper

NM_002608.4

p.V18A

c.53T>C

1 paper

NM_002608.4

p.R16P

c.47G>C

1 paper

NM_002608.4

p.S19T

c.56G>C

1 paper

NM_002608.4

p.Y14N

c.40T>A

1 paper

NM_002608.4

p.E21A

c.62A>C

1 paper

NM_002608.4

p.E21_G22Splc

c.63+2T>G

4 papers

NM_002608.4

p.C12F

c.35G>T

2 papers

NM_002608.4

p.L11_C12delFs

c.33_34delAG

2 papers

NM_002608.4

p.C12fs

c.34_35fs

1 paper

NM_002608.4

p.S10P

c.28T>C

9 papers

NM_002608.4

p.L9R

c.26T>G

1 paper

NM_002608.4

p.F8insFs

c.23dupT